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A Prospective and Retrospective Cohort Study in Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)

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ClinicalTrials.gov Identifier: NCT04106544
Recruitment Status : Recruiting
First Posted : September 27, 2019
Last Update Posted : March 20, 2020
Sponsor:
Information provided by (Responsible Party):
Sanofi

Brief Summary:

Primary Objective:

  • To describe the clinical features and their severity at the time of diagnosis and their evolution over time in patients with confirmed chronic visceral and chronic neurovisceral forms of ASMD
  • To describe Clinician-Reported Outcomes (ClinROs) and Patient-Reported Outcomes (PROs) at enrollment and their evolution over time; disease severity at the time of diagnosis and its evolution over time

Secondary Objectives:

  • To describe abnormal values in laboratory parameters and all values of specific clinical and imaging assessments at the time of diagnosis and their evolution over time
  • To study the use and applicability towards validation of a newly developed ASMD disease severity scoring system
  • To study the use and applicability towards validation of a newly developed ASMD PRO tool
  • To describe ASMD-related disease burden among patients with ASMD, caregivers, and healthcare resource utilization
  • To describe the association between patient demographics (eg, age, gender, race, Ashkenazi ancestry) and genotype with selected clinical features in patients with confirmed chronic visceral and chronic neurovisceral forms of ASMD

Condition or disease Intervention/treatment Phase
Sphingomyelin Lipidosis Procedure: Investigational Procedures Not Applicable

Detailed Description:
Estimated average of study duration (for each patient) is 2 years

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 90 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Other
Official Title: A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)
Actual Study Start Date : September 27, 2019
Estimated Primary Completion Date : October 2022
Estimated Study Completion Date : October 2022


Arm Intervention/treatment
Acid Sphingomyelinase Deficiency (ASMD) Cohort
Patients across the full spectrum of chronic ASMD who have fulfilled the eligibility criteria and who have performed the inclusion visit
Procedure: Investigational Procedures
The investigational assessments will be performed




Primary Outcome Measures :
  1. Time of first occurrence and recurrence of the clinical features and medical interventions related to chronic ASMD [ Time Frame: Minimum 2 years ]
  2. Number of patients with at least one clinical feature and highest severity grade at the time of diagnosis and over time [ Time Frame: Minimum 2 years ]
  3. Clinician-Reported Outcomes (ClinROs) depending on participant's age, local regulation, local availability and investigator's discretion [ Time Frame: Up to 2 years ]
    Clinical Global Impression rating scale (CGI, modified), Neuropathy Symptoms Score (NSS) , Neuropathy Disability Score(NDS), Brief Ataxia Rating Scale (BARS), The Essential Tremor Rating Assessment Scale (TETRAS), Wechsler Preschool and Primary Scale of Intelligence - Fourth Edition (WPPSI™ - IV) , Wechsler Intelligence Scale for Children - Fifth Edition (WISC®-V) and Mini-Mental State Examination (MMSE)

  4. Patient-Reported Outcomes (PROs) depending on participant's age, local regulation, local availability and investigator's discretion [ Time Frame: Up to 2 years ]
    EuroQol-5D-5L , EQ-5D-Y, Pediatric Quality of Life Inventory (PedsQL) core module, 36-Item Short Form Health Survey (SF-36) version 2 , MMRC dyspnea score, PedsQL Multidimensional Fatigue Scale, PedsQL Pediatric Pain Questionnaire, splenomegaly-related symptoms (SRS) v3, Patient Global Impression of Change (PGIC), Patient Global Impression of Symptom Severity (PGIS)


Secondary Outcome Measures :
  1. Number of patients with at least one abnormal value in laboratory parameters [ Time Frame: Minimum 2 years ]
  2. Forced vital capacity (FVC) level over time since the time of diagnosis [ Time Frame: Minimum 2 years ]
  3. Forced expiratory volume in the first second of the maneuver (FEV1) [ Time Frame: Minimum 2 years ]
  4. Total lung capacity (TLC) [ Time Frame: Minimum 2 years ]
  5. Diffusion capacity of CO (DLCO) Test [ Time Frame: Minimum 2 years ]
  6. Pulse Oximetry: Saturation of Peripheral Oxygen (SpO2) [ Time Frame: Minimum 2 years ]
  7. Liver volume [ Time Frame: Minimum 2 years ]
  8. Liver stiffness score [ Time Frame: Minimum 2 years ]
  9. Spleen volume [ Time Frame: Minimum 2 years ]
  10. Bone maturation for age (pediatric patients only) [ Time Frame: Minimum 2 years ]
  11. Age appropriate Z-score deviation for height and weight (children only) [ Time Frame: Minimum 2 years ]
  12. Body mass index (BMI) for adults only [ Time Frame: Minimum 2 years ]
  13. Optimization and validation of ASMD disease severity scoring system (DS3) [ Time Frame: Up to 2 years ]
  14. Validation of ASMD PRO instruments (24h and 7-day recall) [ Time Frame: UP to 2 years ]
  15. Niemann-Pick B Health Assessment Questionnaire [ Time Frame: UP to 2 years ]
  16. Health-related Productivity Questionnaire [ Time Frame: UP to 2 years ]
  17. Association of hepatomegaly with age, gender, race, Ashkenazi ancestry and genotype [ Time Frame: Minimum 2 years ]
  18. Association of splenomegaly with age, gender, race, Ashkenazi ancestry and genotype [ Time Frame: Minimum 2 years ]
  19. Association of lower respiratory tract infection with age, gender, race, Ashkenazi ancestry and genotype [ Time Frame: Minimum 2 years ]
  20. Association of respiratory distress with age, gender, race, Ashkenazi ancestry and genotype [ Time Frame: Minimum 2 years ]
  21. Association of oxygen therapy with age, gender, race, Ashkenazi ancestry and genotype [ Time Frame: Minimum 2 years ]
  22. Association of external bleeding episode with age, gender, race, Ashkenazi ancestry and genotype [ Time Frame: Minimum 2 years ]
  23. Association of myocardial infarction with age, gender, race, Ashkenazi ancestry and genotype [ Time Frame: Minimum 2 years ]
  24. Association of cerebrovascular accident with age, gender, race, Ashkenazi ancestry and genotype [ Time Frame: Minimum 2 years ]
  25. Association of hospitalization with age, gender, race, Ashkenazi ancestry and genotype [ Time Frame: Minimum 2 years ]


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion criteria :

  • Patients with confirmed diagnosis of chronic forms of ASMD based on 1) a clinical diagnosis consistent with chronic visceral ASMD (ie, NPD B) or chronic neurovisceral ASMD (ie, NPD B variant or intermediate NPD A/B) and 2) deficient enzymatic activity (as measured in peripheral leukocytes, cultured fibroblasts, lymphocytes, or DBS) or presence of 2 pathogenic SMPD1 mutations,
  • The patient (or patient's legal guardian) must provide signed informed consent.

Exclusion criteria:

Patients suspected or diagnosed with infantile onset ASMD (ie, NPD A, with progressive developmental delay, or presence of any combination of R498L, L304P, and P333fs*52 genotypes, if available),

  • Patients having received or receiving an investigational drug,
  • Patients receiving any ASMD specific ERT,
  • Patients with poor general condition that would not be able to undergo study assessments as per investigator's clinical judgment.

The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04106544


Contacts
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Contact: Trial Transparency email recommended (Toll free number for US & Canada) 800-633-1610 ext option 6 Contact-US@sanofi.com

Locations
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Brazil
Investigational Site Number 0760001 Recruiting
Porto Alegre, Brazil, 90035-003
Investigational Site Number 0760006 Recruiting
São Paulo, Brazil, 05403000
Chile
Investigational Site Number 152001 Recruiting
Santiago, Chile, 753-0234
Investigational Site Number 152002 Recruiting
Santiago, Chile, 8330077
France
Investigational Site Number 2500002 Recruiting
ANGERS Cedex 01, France, 49033
Investigational Site Number 2500001 Recruiting
Paris, France
Portugal
Investigational Site Number 6200001 Active, not recruiting
Porto, Portugal, 4050-371
Investigational Site Number 6200002 Recruiting
Porto, Portugal, 4200-319
Romania
Investigational Site Number 6420001 Recruiting
Timisoara, Romania, 300011
Spain
Investigational Site Number 7240005 Recruiting
Barcelona, Spain
Investigational Site Number 7240006 Recruiting
Madrid, Spain, 28034
Investigational Site Number 7240004 Recruiting
Sevilla, Spain, 41013
Investigational Site Number 7240002 Recruiting
Zaragoza, Spain, 50006
Sponsors and Collaborators
Sanofi
Investigators
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Study Director: Clinical Sciences & Operations Sanofi

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Responsible Party: Sanofi
ClinicalTrials.gov Identifier: NCT04106544    
Other Study ID Numbers: PIR16183
First Posted: September 27, 2019    Key Record Dates
Last Update Posted: March 20, 2020
Last Verified: March 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Qualified researchers may request access to patient level data and related study documents including the clinical study report, study protocol with any amendments, blank case report form, statistical analysis plan, and dataset specifications. Patient level data will be anonymized and study documents will be redacted to protect the privacy of trial participants. Further details on Sanofi's data sharing criteria, eligible studies, and process for requesting access can be found at: https://www.clinicalstudydatarequest.com/

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Niemann-Pick Disease, Type A
Niemann-Pick Diseases
Niemann-Pick Disease, Type C
Lipidoses
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism Disorders
Metabolic Diseases
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Histiocytosis, Non-Langerhans-Cell
Histiocytosis
Lymphatic Diseases
Lysosomal Storage Diseases